Table 7 CFHR deficiencies and genetic... | American Society of Hematology

Table 7

CFHR deficiencies and genetic alterations in patients with aHUS with anti-fH autoantibodies

Patient	CFHR1 deficiency	CFHR3 deficiency	CFHR4A deficiency	Δ_CFHR1-CFHR3	Δ_CFHR1-CFHR4	CFHR1 mutation	Other mutations*
H87	X	X	—	Homozygote	—	—	—
H108	X	X	—	Homozygote	—	—	—
H154	X	X	—	Homozygote	—	—	—
H177	X	—	X	—	Homozygote	—	—
H119	X	—	—	Heterozygote	—	Heterozygote	—
H151	—	—	—	Heterozygote	—	—	—
H171	—	—	—	—	—	—	—

Patient	CFHR1 deficiency	CFHR3 deficiency	CFHR4A deficiency	Δ_CFHR1-CFHR3	Δ_CFHR1-CFHR4	CFHR1 mutation	Other mutations*
H87	X	X	—	Homozygote	—	—	—
H108	X	X	—	Homozygote	—	—	—
H154	X	X	—	Homozygote	—	—	—
H177	X	—	X	—	Homozygote	—	—
H119	X	—	—	Heterozygote	—	Heterozygote	—
H151	—	—	—	Heterozygote	—	—	—
H171	—	—	—	—	—	—	—

X indicates homozygous deficiency; and —, no deficiency/no genetic alteration.

Genes analyzed were CFH, MCP, CFI, CFB, and C3.